Avtor/Urednik     Geršak, K
Naslov     Genetic counseling of fetal abnormalities
Tip     članek
Vir     In: Kurjak A, Chervenak FA, editors. International proceedings of the 7th world congress of perinatal medicine; 2005 Sep 21-24; Zagreb. Zagreb: Medimond, International proceedings,
Leto izdaje     2005
Obseg     str. 107-10
Jezik     eng
Abstrakt     The field of dysmorphology is the clinical recognition of structural abnormalities. When a fetal ultrasound examination reveals a structural anomaly, the first step is to determine if the anomaly is an isolated single anomaly, whether there are other ultrasound findings or there are major and minor anomalies. If several anomalies are present, they may fall into a pattern, which suggests a specific sequence, syndrome or association. Anomalies can be classified into four types of abnormal morphogenesis - malformation, deformation, disruption and dysplasia. Documenting the family history, and laboratory studies are essential in trying to determine whether the anomalies are likely to have a genetic cause. Diagnosis leading to prognostic information is especially useful in planning management and an assessment of the recurrence risk can be made.
Deskriptorji     FETUS
ABNORMALITIES
ULTRASONOGRAPHY, PRENATAL
DEVELOPMENTAL DISABILITIES
PROGNOSIS